Childhood Blindness

The Ramamurthy lab is examining the biochemical and molecular basis behind childhood blindness caused by mutations in Aryl hydrocarbon receptor interacting pro-tein like-1 (AIPL1). Mutations in AIPL1 cause rapid and severe degeneration of retinal neurons resulting in complete visual loss. We primarily use transgenic and knockout mouse models to elucidate the role of AIPL1 in visual signal transduction. We are also attempting to treat the visual defects observed in AIPL1 knockout mice using gene therapy.

Congenital Stationary Night Blindness

Synpatic transmission from photoreceptor neurons to downstream bipolar cells is essential for light perception. Mutations in several genes result in defective synaptic transmission causing night blindness in humans. The Ramamurthy lab is embarking on a project to ascertain the role of these defective genes in synaptic transmission. Unravelling the biochemical mechanisms behind synaptic transmission in retina is fundamental in establishing how neurons communicate information and therefore is vital in treatment of diseases such as night blindness.